Concepedia

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy

Molly F. Wood, Sarah C. Hughes, Lauren P. Hache, Edwin W. Naylor, Hoda Abdel‐Hamid, M. Michael Barmada, Steven F. Dobrowolski, David E. Stickler, Paula R. Clemens

Muscle & Nerve · 2013 · 40 citations · 49 references

DOI

Abstract

There was strong support for NBS for DMD, BMD, and SMA in both groups of parents. Given advances in diagnostics and promising therapeutic approaches, discussion of inclusion in NBS should continue.

References

49

Dystrophin: The protein product of the duchenne muscular dystrophy locus

Eric P. Hoffman, Robert H. Brown, Louis M. Kunkel · Cell · 1987 · 4.6K citations

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Identification and characterization of a spinal muscular atrophy-determining gene

Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet et al. · Cell · 1995 · 3.9K citations · Full text

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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

K. Bushby, Richard S. Finkel, David J. Birnkrant et al. · The Lancet Neurology · 2009 · 2K citations

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Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation

Michelle Eagle, Simon Baudouin, Colin Chandler et al. · Neuromuscular Disorders · 2002 · 989 citations

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Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Ching H. Wang, Richard S. Finkel, Enrico Bertini et al. · Journal of Child Neurology · 2007 · 917 citations

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